Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.E77E

EPHX1

557 papers

RefSeq Summary

Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epo...

Pfam Domains

Abhydrolase_1aa 142–405UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

epoxide hydrolase 1

HGNC Previous Name

epoxide hydrolase 1, microsomal (xenobiotic)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001136018.4
p.E77E
c.231G>A
Surrounding Variants
1 paper
NM_001136018.4
p.R71H
c.212G>A
1 paper
NM_001136018.4
p.R71C
c.211C>T
1 paper
NM_001136018.4
p.F85F
c.255C>T
2 papers
NM_001136018.4
p.D68D
c.204T>C
3 papers
NM_001136018.4
p.S87P
c.259T>C
1 paper
NM_001136018.4
p.D68N
c.202G>A
1 paper
NM_001136018.4
p.N88D
c.262A>G
3 papers
NM_001136018.4
p.I67T
c.200T>C
1 paper
NM_001136018.4
p.R66K
c.197G>A
1 paper
NM_001136018.4
p.R66M
c.197G>T
3 papers
NM_001136018.4
p.H64Y
c.190C>T
1 paper
NM_001136018.4
p.H61_D62Splc
c.184-1G>A
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